Intellectual Developmental Disorder with Ocular Anomalies and Distinctive Facial Features (IDDOF)

Intellectual Developmental Disorder with Ocular Anomalies and Distinctive Facial Features, also known as iddof, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and cryptorchidism, unilateral or bilateral. An important gene associated with Intellectual Developmental Disorder with Ocular Anomalies and Distinctive Facial Features is MTSS2 (MTSS I-BAR Domain Containing 2). Related phenotypes are global developmental delay and intellectual disability, mild